Items tagged “syndrome”

259 results found
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Oral-facial-digital syndromes

Oral-facial-digital syndromes (OFDS) are a group of rare genetic developmental disorder that affects the mouth, face, digits and also may cause some problems on the central nervous, kidney and the other organs. Classification Some publications have classified at least 13 forms of OFDS based on...
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Hydrolethalus syndrome

Hydrolethalus syndrome is a rare lethal genetic syndrome characterized by multiple developmental defects of the fetus which include: midline malformations cleft lip + / - palate CNS malformations fetal hydrocephalus agenesis of the corpus callosum Dandy-Walker malformation absent midline ...
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Thrombocytopenia with absent radius syndrome

Thrombocytopenia with absent radius (TAR) syndrome is primarily characterized by the following two features: fetal thrombocytopenia absent fetal radii (bilaterally) with the presence of both thumbs Epidemiology The condition is extremely rare with an estimated incidence of 0.4 per 100,000 bi...
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Russell-Silver dwarfism

Russell-Silver dwarfism is a very rare syndrome representing a form of primordial dwarfism. Epidemiology Associations single umbilical artery Clinical presentation intrauterine growth restriction: tends to give an asymmetrical IUGR postnatal growth restriction relatively large calvarium: ...
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Wolf-Hirschhorn syndrome

Wolf-Hirschhorn syndrome (WHS) is an extremely rare chromosomal anomaly characterized by partial deletion of the p arm of chromosome 4 (4p16.3). Clinical presentation There is a large clinical spectrum: CNS agenesis of the corpus callosum hypertelorism coloboma seizures 4 craniofacial c...
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Miller-Dieker syndrome

Miller-Dieker syndrome (MDS) is a rare chromosomal anomaly and is one of the conditions considered part of lissencephaly type I (classic) 6.  It is the form of lissencephaly that is most recognizable on prenatal imaging due to its severity 5. Clinical presentation Features include: CNS ...
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Crouzon syndrome

Crouzon syndrome, also known as craniofacial dysotosis, is rare disorder characterized by premature craniosynostoses.  Pathology Features include: abnormal calvarial shape: in severe case can give a "cloverleaf skull"  shallow orbits with exophthalmos mid facial hypoplasia bifid uvula Gen...
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Aase-Smith syndrome

Aase-Smith syndrome (or Aase syndrome) is an extremely rare congenital disorder characterized by anemia and skeletal deformity. Epidemiology Aase-Smith syndrome has a prevalence of less than 1 per 1,000,000 persons. There have only been 20 reported cases. Clinical presentation congenital hyp...
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Aarskog syndrome

Aarskog syndrome or Aarskog–Scott syndrome (also known as the facio-digito-genital syndrome) is a rare anomaly characterized by short stature in association with a variety of structural anomalies involving mainly the face, distal extremities, and external genitalia. Epidemiology Population pre...
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Lowe syndrome

Lowe syndrome, also known as the oculocerebrorenal syndrome of Lowe, is a multisystem disorder characterized by anomalies primarily affecting the eyes, nervous system, and kidneys. Epidemiology It is an extremely rare, pan-ethnic disease, with an estimated prevalence in the general population ...
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Klinefelter syndrome

Klinefelter syndrome (KS) is a sex chromosomal anomaly, which in most cases is characterized by 47 chromosomes instead of the usual 46. Epidemiology The estimated incidence is 0.15-0.2% of live births. Clinical presentation the testes are normal prior to puberty and small in post pubertal te...
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Loeys-Dietz syndrome

Loeys-Dietz syndrome is an autosomal dominant connective tissue disorder which has many features similar to Marfan syndrome. The disease is characterized by skeletal manifestations and vasculopathies. Although Loeys-Dietz syndrome shares many similarities with Marfan syndrome, the course is oft...
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Sheehan syndrome

Sheehan syndrome is a rare cause of pituitary apoplexy and hypopituitarism. It only occurs in postpartum females who experience large volume hemorrhage and hypovolemic shock, either during delivery or afterward with resultant necrosis of anterior pituitary cells 4. Epidemiology Advances in obs...
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Amyoplasia congenita

Amyoplasia congenita is a syndrome characterized by multiple specific congenital joint contractures, associated with substitution of muscular tissue by fibrosis and adipose tissue. Epidemiology The estimated incidence is at  1: 10000 live births. There may be a higher prevalence with twin preg...
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Chondroectodermal dysplasia

Chondroectodermal dysplasia, also known as the Ellis-van Creveld syndrome, is a rare type of skeletal dysplasia. It is classified as a type of mesomelic limb shortening 5. Epidemiology Associations congenital cardiac anomalies: may be present in up to ~50% of cases Clinical spectrum Clinica...
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Mirror syndrome

Mirror syndrome or triple edema or Ballantyne syndrome is a rare disorder affecting pregnant women. It refers to the unusual association of fetal and placental hydrops with maternal pre-eclampsia and edema. History and etymology It was first described in 1892 by John William Ballantyne.
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Pallister Killian syndrome

Pallister-Killian syndrome (PKS) is an extremely rare chromosomal anomaly. Epidemiology It may be more prevalent in births from women of advanced age 4. Clinical presentation Phenotypic expression can significantly vary from multiple anomalies resulting in perinatal death to the more charact...
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Rubinstein-Taybi syndrome

Rubinstein-Taybi syndrome (RTS) is a very rare genetic multi-system disorder primarily characterized by intellectual disability, broad and often angulated thumbs and halluces, and distinctive facial features. Epidemiology The estimated incidence is 1 in 100,000-125,000 live births 5. Clinical...
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Van der Woude syndrome

Van der Woude syndrome (VWS) is characterized by the association of congenital lower lip fistulae/pits with cleft lip and/or palate. It is one of the most common clefting syndromes in humans 1 and affected individuals have a high prevalence of hypodontia. Pathology Genetics It carries an aut...
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Jacobsen syndrome

Jacobsen syndrome, also known as the chromosome 11q deletion syndrome, is a rare chromosomal anomaly that results from deletion of the terminal region of chromosome 11. It results in intellectual disabilities, a distinctive facial appearance and a variety of physical problems including heart def...